Linked Data
dbSNP Id:
rs753758717
ExAC:
21:46309361 C / G
gnomAD v2:
21-46309361-C-G
gnomAD v4:
21-44889446-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44889446C>G , CM000683.2:g.44889446C>G | GRCh38 |
| NC_000021.8:g.46309361C>G , CM000683.1:g.46309361C>G | GRCh37 |
| NC_000021.7:g.45133789C>G | NCBI36 |
| NG_007270.2:g.44393G>C , LRG_76:g.44393G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696946.1:n.914G>C | ||
| ENST00000302347.10:c.1779G>C | ENSP00000303242.6:p.Glu593Asp | |
| ENST00000652462.1:c.1707G>C MANE Select | ENSP00000498780.1:p.Glu569Asp | |
| ENST00000302347.9:c.1707G>C | ENSP00000303242.5:p.Glu569Asp | |
| ENST00000355153.8:c.1707G>C | ENSP00000347279.4:p.Glu569Asp | |
| ENST00000397850.6:c.1707G>C | ENSP00000380948.2:p.Glu569Asp | |
| ENST00000397852.5:c.1707G>C | ENSP00000380950.1:p.Glu569Asp | |
| ENST00000397854.7:c.1536G>C | ENSP00000380952.3:p.Glu512Asp | |
| ENST00000397857.5:c.1707G>C | ENSP00000380955.1:p.Glu569Asp | |
| ENST00000475170.5:n.1107G>C | ||
| ENST00000498666.5:n.3763G>C | ||
| ENST00000523323.5:c.*1534G>C | ENSP00000427732.1:n.*1534G>C | |
| ENST00000610622.4:c.*398G>C | ENSP00000480700.1:n.*398G>C | |
| NM_000211.4:c.1707G>C | NP_000202.3:p.Glu569Asp | |
| NM_001127491.2:c.1707G>C | NP_001120963.2:p.Glu569Asp | |
| NM_001303238.1:c.1500G>C | NP_001290167.1:p.Glu500Asp | |
| XM_006724001.1:c.1500G>C | XP_006724064.1:p.Glu500Asp | |
| XM_006724001.2:c.1500G>C | XP_006724064.1:p.Glu500Asp | |
| NM_000211.5:c.1707G>C MANE Select | NP_000202.3:p.Glu569Asp | |
| NM_001127491.3:c.1707G>C | NP_001120963.2:p.Glu569Asp | |
| NM_001303238.2:c.1500G>C | NP_001290167.1:p.Glu500Asp |